Results 51 to 60 of about 632 (150)
Abstract Background There are many post‐procedural treatments touted to improve comfort and decrease downtime, but very few prospective randomized studies. Aims To analyze the safety and efficacy of a post‐procedural biotech cellulose mask. Patients/Method Fifteen patients undergoing either a microneedling with radiofrequency (n = 5), non‐ablative ...
Robyn Siperstein +3 more
wiley +1 more source
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai +5 more
doaj +1 more source
Autosomal Recessive Congenital Icthyosis with Cataract – A Case Report from Pakistan
The ichthyoses are a diverse group of disorders with variable clinical presentations. There are syndromic and non-syndromic forms with multiple associated features. The association of autosomal recessive congenital icthyosis (ARCI) with cataract is a rare phenomenon and no such case has been reported in recent literature. We hereby report the case of a
Nida Fatima +3 more
openaire +1 more source
From Mendel to mycoses: Immuno‐genomic warfare at the human–fungus interface
Summary Fungi are opportunists: They particularly require a defect of immunity to cause severe or disseminated disease. While often secondary to an apparent iatrogenic cause, fungal diseases do occur in the absence of one, albeit infrequently. These rare cases may be due to an underlying genetic immunodeficiency that can present variably in age of ...
Donald C. Vinh
wiley +1 more source
Sjögren Larsson syndrome: A case study with unique mutation
Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia.
Raidah Albaradie +3 more
doaj +1 more source
Phosphorylation of Epidermal Keratins [PDF]
When human and rat epidermis are exposed to 32P-orthophosphoric acid, labeled phosphate is incorporated into several proteins. The pattern of phosphorylation is identical whether the isotope is delivered in vivo or in vitro.
Freedberg, Irwin M. +2 more
core +1 more source
Importance of therapeutic patient education in icthyosis: results of a prospective single reference center study. [PDF]
International audienceBACKGROUND: Ichthyoses are a heterogeneous group of rare genodermatoses. Patients and their families face difficulties related to daily care and management that may be aggravated by social isolation.ObjectivesTo evaluate the impact ...
Smail Hadj-Rabia +7 more
core +1 more source
Ictiose Congênita: Relato de Caso: congenital icthyosis: case report
A ictiose congênita (bebê arlequim) é uma desordem rara, autossômica recessiva, caracterizada por espessamento cutâneo excessivo, com a presença de grandes placas de pele separadas por fissuras profundas, especialmente em áreas de flexão.
Lopes Miralha, Alexandre +3 more
core
The Most Common Dermatological Findings In Atopic Dermatitis
Background: Atopic dermatitis (AD) is a common, chronic, relapsing, itchy, skin condition occurring in patients with a personal or family history of atopy. It varies widely in clinical presentation at different ages and places.
Hasan Nasir AL-Musawi
doaj +2 more sources
Icthyosis, Spastic Diplegia and Retinopathy
Dermatological and psychomotor abnormalities; Severe retardationA 5-year old female with dermatological and psychomotor abnormalities. Family history significant for a younger sibling with identical conditions.
F. C. Chu, MD; W. G. Robison, MD; T. Kuwabara, MD; D. G. Cogan, MD
core

